A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv433426



Internal ID15378694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20242941..20566406hg38UCSC Ensembl
Innerchr15:20448194..20771729hg19UCSC Ensembl
Innerchr15:18708208..19031743hg18UCSC Ensembl
Innerchr15:18708208..19031743hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38323466
hg19323536
hg18323536
hg17323536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv463307
SamplesNA19240
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisLarge CNV discovery was accomplished by using HMMSeg, considering both the `LogR ratio' and `B-allele frequency' data for each sample simultaneously. We used a four-state model, one each for null (homozygous deletion), hemizygous deletion, diploid and amplification. Initial segmentation results were merged and filtered, requiring all variants to be larger than 1 kb in length and to span at least 10 probes for amplifications or hemizygous deletions, or 3 probes for homozygous deletions. We then used a combination of paired-end sequence maps, oligo array-CGH, and variant resequencing (described in Kidd et al. 2008) to support the calls.
PlatformIllumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C)
Comments
ReferenceCooper_et_al_2008
Pubmed ID18776910
Accession Number(s)nsv433426
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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